ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827105013
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115647
RCV000121835
RCV000415644
RCV000586586
RCV001080700
RCV001249992
RCV001354576
RCV001798333
RCV003389688
RCV003492485
ClinVar Variation:
127751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Asn200Ser
CA009076
NM_001322004.2:c.599A>G